Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature

J Oral Maxillofac Surg. 2018 Oct;76(10):2202-2208. doi: 10.1016/j.joms.2018.03.027. Epub 2018 Mar 29.


Purpose: Dagfinn Aarksog first described faciodigitogenital syndrome in 1970. Its inheritance is X linked and autosomally recessive. Currently, the diagnosis of Aarskog-Scott syndrome (ASS) is based on clinical dysmorphologic findings and can be supported by genetic examination.

Report of cases: This report describes 3 brothers already diagnosed with ASS who were referred for examination of oral and maxillofacial malformations associated with ASS. They presented classic features of ASS, such as digital and genital (shawl scrotum) anomalies. More specifically, in terms of orbitopalpebral malformations, they showed marked ptosis with hypertelorism and antimongoloid palpebral fissure that gave them the characteristic facies. Concerning their oral and maxillofacial malformations, they had dental and skeletal major discrepancies and some dental agenesia.

Discussion and conclusion: ASS is a rare X-linked syndrome composed of numerous morphologic facial, digital, and genital anomalies. The diagnosis is established genetically with the FGD1 mutation but there is no phenotypic and genotypic correlation with FGD1 mutations. Concerning maxillofacial malformations, maxillary and mandibular hypoplasia with jaw discrepancies can be found, as can teeth anomalies. It seems that these anomalies are widely underestimated.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Child
  • Dentofacial Deformities / diagnosis*
  • Dentofacial Deformities / genetics*
  • Dentofacial Deformities / physiopathology
  • Diagnosis, Differential
  • Dwarfism / diagnosis*
  • Dwarfism / genetics*
  • Face / abnormalities*
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics*
  • Genitalia, Male / abnormalities*
  • Guanine Nucleotide Exchange Factors / genetics*
  • Hand Deformities, Congenital / diagnosis*
  • Hand Deformities, Congenital / genetics*
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Male
  • Mutation
  • Siblings


  • FGD1 protein, human
  • Guanine Nucleotide Exchange Factors

Supplementary concepts

  • Aarskog Syndrome